Canonical Allele Identifier: CA2646645911
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94010649del , CM000663.2:g.94010649del GRCh38
NC_000001.10:g.94476205del , CM000663.1:g.94476205del GRCh37
NC_000001.9:g.94248793del NCBI36
NG_009073.1:g.115501del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5714+151del MANE Select ENSP00000359245.3:n.5714+151del
ENST00000370225.3:c.5714+151del ENSP00000359245.3:n.5714+151del
ENST00000465352.1:n.130+151del
ENST00000536513.5:c.2090+151del ENSP00000439707.2:n.2090+151del
NM_000350.2:c.5714+151del NP_000341.2:n.5714+151del
NM_000350.3:c.5714+151del MANE Select NP_000341.2:n.5714+151del